Variant report

Variant	rs60193047
Chromosome Location	chr7:107069846-107069847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17154159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17154167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55840928	0.81[AFR][1000 genomes]
rs56927744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58218888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58800910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59865183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724068	0.81[AFR][1000 genomes]
rs73724069	0.81[AFR][1000 genomes]
rs73724070	0.81[AFR][1000 genomes]
rs73724516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724519	1.00[AFR][1000 genomes]
rs73724520	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724523	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724525	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3383027	chr7:106802625-107096474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1832266	chr7:106961882-107136320	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107027800-107086800	Weak transcription	Aorta	Aorta
2	chr7:107028200-107082400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:107028200-107103800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:107035800-107133000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:107037800-107102200	Weak transcription	Ovary	ovary
6	chr7:107038800-107100600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:107041000-107070000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:107046400-107081800	Weak transcription	HSMM	muscle
9	chr7:107046800-107082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:107050600-107102400	Weak transcription	Dnd41	blood
11	chr7:107050800-107100200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:107051400-107087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:107051600-107079000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:107051600-107082600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:107051800-107070200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:107051800-107071000	Weak transcription	Fetal Intestine Large	intestine
17	chr7:107051800-107088600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:107052000-107098600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:107052600-107070000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:107052600-107126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:107056800-107082400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:107065000-107100600	Weak transcription	Thymus	Thymus
23	chr7:107067600-107074400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:107067600-107119800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:107068200-107098400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:107068400-107082400	Weak transcription	Left Ventricle	heart
27	chr7:107068400-107104000	Weak transcription	Pancreas	Pancrea
28	chr7:107068600-107072400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:107068800-107071000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:107069000-107072200	Weak transcription	Psoas Muscle	Psoas
31	chr7:107069000-107072200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:107069400-107086400	Weak transcription	Primary T cells from cord blood	blood
33	chr7:107069800-107070400	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr7:107069800-107070400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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